Alpelisib Treatment for Genital Vascular Malformation in a Patient with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) Syndrome.

Abstract

BACKGROUND:

Most patients with phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA)-related overgrowth spectrum become symptomatic early in life and need treatment before puberty. Recently, the specific inhibition of PIK3CA pathways has been proposed as a therapeutic option for these patients improving their surgical options and quality of life. Alpelisib, a specific alpha fraction inhibitor, has shown promising results.

CASE:

A 17-year-old girl presented with severe involvement of her external genitalia with a combined vascular malformation in the context of congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi and spinal/skeletal anomalies and/or scoliosis syndrome, needing frequent blood transfusions for anemia due to vaginal bleeding and use of a crutch for walking. After failure of treatment with rapamycin, compassionate treatment with alpelisib was started with excellent response.

SUMMARY AND CONCLUSION:

PIK3CA inhibitors might become a new option of treatment for PIK3CA-related overgrowth spectrum patients.

• Authors: Juan Carlos López Gutiérrez, Rocío Lizarraga, Carlos Delgado, María José Martínez Urrutia, Mercedes Díaz, Miriam Miguel, Paloma Triana
• Journal: Journal of pediatric and adolescent gynecology (J Pediatr Adolesc Gynecol) Vol. 32 Issue 6 Pg. 648-650 (Dec 2019) ISSN: 1873-4332 [Electronic] United States
• PMID: 31330249 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2019 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Chemical References

• Protein Kinase Inhibitors
• Thiazoles
• Alpelisib
• Class I Phosphatidylinositol 3-Kinases
• PIK3CA protein, human

Topics

• Adolescent
• Class I Phosphatidylinositol 3-Kinases (antagonists & inhibitors)
• Female
• Genitalia, Female (blood supply)
• Humans
• Lipoma (drug therapy)
• Musculoskeletal Abnormalities (drug therapy)
• Nevus (drug therapy)
• Protein Kinase Inhibitors (therapeutic use)
• Thiazoles (therapeutic use)
• Vascular Malformations (drug therapy)